Wally, Verena Reisenberger, Manuela Kitzmüller, Sophie Laimer, Martin
Published in
Orphanet Journal of Rare Diseases
BackgroundHereditary epidermolysis bullosa (EB) comprises a heterogeneous group of rare genodermatoses, which are caused by mutations in genes involved in the maintenance of the structural and functional integrity of dermo-epidermal adhesion in various stratified epithelia. In severe variants, generalized skin disease, extracutaneous manifestations...
Requena-Méndez, Ana Bisoffi, Zeno Vives-Corrons, Joan-Lluis Gascon, Joaquim Plasència, Antoni
Published in
Orphanet Journal of Rare Diseases
IntroductionIn the current mobility and globalization context, there is a growing need to identify potential changes on the pattern of diseases in the European Union (EU)/European Economic Area (EEA) and provide accurate diagnosis and treatment for the population. The pattern of rare communicable diseases that can affect people returning to EU/EEA ...
Stengl, Roland Bors, András Ágg, Bence Pólos, Miklós Matyas, Gabor Molnár, Mária Judit Fekete, Bálint Csabán, Dóra Andrikovics, Hajnalka Merkely, Béla
...
Published in
Orphanet Journal of Rare Diseases
BackgroundMarfan syndrome (MFS) is a systemic connective tissue disorder with life-threatening manifestations affecting the ascending aorta. MFS is caused by dominant negative (DN) and haploinsufficient (HI) mutations of the FBN1 gene. Our aim was to identify mutations of MFS patients with high detection rate and to investigate the use of a gene pa...
Pinós, Tomàs Andreu, Antoni L. Bruno, Claudio Hadjigeorgiou, Georgios M. Haller, Ronald G. Laforêt, Pascal Lucía, Alejandro Martín, Miguel A. Martinuzzi, Andrea Navarro, Carmen
...
Published in
Orphanet Journal of Rare Diseases
BackgroundInternational patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes a...
Bork, Konrad Machnig, Thomas Wulff, Karin Witzke, Guenther Prusty, Subhransu Hardt, Jochen
Published in
Orphanet Journal of Rare Diseases
BackgroundHereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) (HAEnCI) is associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper airway obstruction. Several different gene mutations linked to the HAE phenotype have been identified. Our aim was to qualitatively assess and describe the clinical differentiat...
Tian, Wen Huang, Yingzhao Sun, Liying Guo, Yang Zhao, Sen Lin, Mao Dong, Xiying Zhong, Wenyao Yin, Yuehan Chen, Zefu
...
Published in
Orphanet Journal of Rare Diseases
BackgroundIsolated macrodactyly is a severe congenital hand anomaly with functional and physiological impact. Known causative genes include PIK3CA, AKT1 and PTEN. The aim of this study is to gain insights into the genetics basis of isolated macrodactyly.ResultsWe enrolled 24 patients with isolated macrodactyly. Four of them were diagnosed with Prot...
Beyzaei, Zahra Geramizadeh, Bita Karimzadeh, Sara
Published in
Orphanet Journal of Rare Diseases
BackgroundGlycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay, are invasive. Meanwhile, GSDs are diseases with significant genetic heterogeneity, and gene-sequencing methods can be more useful...
Bolte, Fabian J. Langenstroer, Christel Friebel, Frauke Hüsing-Kabar, Anna Dugas, Martin Schmidt, Hartmut H.
Published in
Orphanet Journal of Rare Diseases
BackgroundTransthyretin familial amyloid polyneuropathy (ATTR-FAP) is a rare autosomal dominant inherited disease affecting multiple organ systems. ATTR-FAP patients’ experiences have rarely been documented. The aim of this study was to collect patient reported outcomes across different countries to assess unmet needs and challenges. An anonymous s...
Wang, Li Li, Wei Zhang, Shangzhu Peng, Linyi Shen, Min Song, Shuoning Zhang, Wei Cao, Xinxin Feng, Ruie Zhang, Wen
...
Published in
Orphanet Journal of Rare Diseases
BackgroundRosai–Dorfman disease (RDD) and IgG4-related (IgG4-RD) disease are both rare diseases, but in some cases, RDD mimics IgG4-RD clinically and pathologically. RDD mimicking IgG4-RDs (RDD mimic IgG4-RD), referring to disease initially diagnosed as IgG4-RD but finally pathologically confirmed to be RDD, is a clinically rare and confusing disea...
Dinur, Tama Istaiti, Majdolen Frydman, Dafna Becker-Cohen, Michal Szer, Jeff Zimran, Ari Revel-Vilk, Shoshana
Published in
Orphanet Journal of Rare Diseases
BackgroundIt is now acknowledged that the input of patients in health outcome assessment is vital to understanding the impact of diseases and interventions for those diseases. This study is the first report of patient-reported outcome measures (PROM) in a large cohort of patients with type 1 Gaucher disease (GD1) enabling us to study predictors of ...
